regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FERMT1_chr20_6069845_6128030 | 6116048 | C | T | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(148): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0003a0001c0010others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(41): Show | a0001c0001t0001g0159a0001c0001t0001g0160a0001c0001t0001g0161others(131): Show | 151 | 368 | 0.4103 | 0 | c.152 others(5): Show |
FERMT1 | ENSG00000101311.17 | transcript | ENST00000217289.9 | protein_coding | 2/14 | chr20 | TogoVar | ||||||
FERMT2_chr14_52852273_52956050 | 52864393 | G | C | splice_region_variant others(1): Show |
LOW | HG03195.hp2 | a0001 | a0001c0007 | a0001c0007t0012 | a0001c0007t0012g0216 | 1 | 288 | 0.0035 | 0 | c.160 others(6): Show |
FERMT2 | ENSG00000073712.15 | transcript | ENST00000341590.8 | protein_coding | 12/14 | chr14 | TogoVar | ||||||
FERMT2_chr14_52852273_52956050 | 52874230 | G | C | splice_region_variant others(1): Show |
LOW | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0067 | 1 | 288 | 0.0035 | 0 | c.109 others(6): Show |
FERMT2 | ENSG00000073712.15 | transcript | ENST00000341590.8 | protein_coding | 8/14 | chr14 | TogoVar | ||||||
FERMT2_chr14_52852273_52956050 | 52950585 | C | A | splice_region_variant others(1): Show |
LOW | HG02970.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0217 | 1 | 288 | 0.0035 | 0 | c.-9- others(4): Show |
FERMT2 | ENSG00000073712.15 | transcript | ENST00000341590.8 | protein_coding | 1/14 | chr14 | TogoVar | ||||||
FERMT3_chr11_64201721_64228891 | 64211640 | C | G | splice_region_variant others(1): Show |
LOW | HG01243.hp1 | a0005 | a0005c0016 | a0005c0016t0001 | a0005c0016t0001g0057 | 1 | 370 | 0.0027 | 0 | c.684 others(5): Show |
FERMT3 | ENSG00000149781.14 | transcript | ENST00000345728.10 | protein_coding | 5/14 | chr11 | TogoVar | ||||||
FERMT3_chr11_64201721_64228891 | 64219243 | C | G | splice_region_variant others(1): Show |
LOW | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0111 | 1 | 370 | 0.0027 | 0 | c.787 others(5): Show |
FERMT3 | ENSG00000149781.14 | transcript | ENST00000345728.10 | protein_coding | 6/14 | chr11 | TogoVar | ||||||
FERMT3_chr11_64201721_64228891 | 64219520 | C | T | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG00558.hp1 HG00642.hp1 others(24): Show |
a0001 | a0001c0001a0001c0004a0001c0015others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0015t0001others(1): Show | a0001c0001t0001g0122a0001c0004t0001g0008a0001c0004t0001g0012others(9): Show | 27 | 370 | 0.0730 | 0 | c.895 others(5): Show |
FERMT3 | ENSG00000149781.14 | transcript | ENST00000345728.10 | protein_coding | 7/14 | chr11 | TogoVar | ||||||
FER_chr5_108742897_109201841 | 108832750 | C | CT | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00735.hp1 HG01106.hp1 others(9): Show |
a0001 | a0001c0002a0001c0006a0001c0007others(1): Show | a0001c0002t0001a0001c0002t0019a0001c0006t0002others(8): Show | a0001c0002t0001g0130a0001c0002t0019g0103a0001c0006t0002g0003others(9): Show | 12 | 138 | 0.0870 | 1 | c.208 others(6): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
FER_chr5_108742897_109201841 | 108832750 | CT | C | splice_region_variant others(1): Show |
LOW | HG02615.hp2 HG02976.hp1 HG03041.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0031others(3): Show | a0001c0001t0001g0135a0001c0001t0002g0028a0001c0001t0002g0104others(4): Show | 7 | 138 | 0.0507 | -1 | c.208 others(6): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
FER_chr5_108742897_109201841 | 108867750 | GT | G | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG01071.hp1 HG01099.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0060a0001c0001t0001g0067a0001c0001t0001g0085others(31): Show | 34 | 138 | 0.2464 | -1 | c.482 others(6): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
FER_chr5_108742897_109201841 | 108897661 | T | C | missense_variant others(1): Show |
MODERATE | HG02622.hp1 HG03453.hp2 |
a0004 | a0004c0012 | a0004c0012t0005a0004c0012t0020 | a0004c0012t0005g0014a0004c0012t0020g0032 | 2 | 138 | 0.0145 | 0 | c.104 others(4): Show |
p.Ile others(6): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 10/20 | 1358/12044 | 1049/2469 | 350/822 | chr5 | TogoVar | ||
FER_chr5_108742897_109201841 | 108897846 | A | G | missense_variant others(1): Show |
MODERATE | HG01891.hp2 HG02647.hp2 HG03139.hp1 |
a0003 | a0003c0009 | a0003c0009t0002a0003c0009t0008 | a0003c0009t0002g0057a0003c0009t0002g0058a0003c0009t0008g0056 | 3 | 138 | 0.0217 | 0 | c.123 others(4): Show |
p.Met others(6): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 10/20 | 1543/12044 | 1234/2469 | 412/822 | chr5 | TogoVar | ||
FER_chr5_108742897_109201841 | 109186192 | T | C | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00733.hp1 HG01099.hp2 others(37): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(17): Show | a0001c0001t0003g0018a0001c0001t0004g0040a0001c0001t0004g0071others(37): Show | 40 | 138 | 0.2899 | 0 | c.220 others(6): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 18/19 | chr5 | TogoVar | ||||||
FES_chr15_90879504_90900776 | 90885406 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(248): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(74): Show | 251 | 412 | 0.6092 | 0 | c.214 others(5): Show |
FES | ENSG00000182511.12 | transcript | ENST00000328850.8 | protein_coding | 2/18 | chr15 | TogoVar | ||||||
FES_chr15_90879504_90900776 | 90889960 | G | A | splice_region_variant others(1): Show |
LOW | NA18966.hp1 NA19005.hp1 NA19091.hp2 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0019 | 3 | 412 | 0.0073 | 0 | c.104 others(4): Show |
p.Glu others(6): Show |
FES | ENSG00000182511.12 | transcript | ENST00000328850.8 | protein_coding | 8/19 | 1097/2737 | 1047/2469 | 349/822 | chr15 | TogoVar | ||
FES_chr15_90879504_90900776 | 90890483 | C | T | missense_variant others(1): Show |
MODERATE | HG00099.hp1 | a0003 | a0003c0014 | a0003c0014t0001 | a0003c0014t0001g0018 | 1 | 412 | 0.0024 | 0 | c.131 others(4): Show |
p.Ser others(6): Show |
FES | ENSG00000182511.12 | transcript | ENST00000328850.8 | protein_coding | 10/19 | 1369/2737 | 1319/2469 | 440/822 | chr15 | TogoVar | ||
FES_chr15_90879504_90900776 | 90894064 | C | T | splice_region_variant others(1): Show |
LOW | HG00609.hp1 NA18985.hp2 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 3 | 412 | 0.0073 | 0 | c.232 others(6): Show |
FES | ENSG00000182511.12 | transcript | ENST00000328850.8 | protein_coding | 18/18 | chr15 | TogoVar | ||||||
FETUB_chr3_186635399_186658141 | 186641148 | C | T | splice_region_variant others(1): Show |
LOW | HG00639.hp1 HG00735.hp1 HG02109.hp1 others(1): Show |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0034a0001c0007t0001g0138 | 4 | 459 | 0.0087 | 0 | c.336 others(5): Show |
FETUB | ENSG00000090512.12 | transcript | ENST00000265029.8 | protein_coding | 2/6 | chr3 | TogoVar | ||||||
FETUB_chr3_186635399_186658141 | 186642466 | T | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 459 | 0.0022 | 0 | c.337 others(5): Show |
FETUB | ENSG00000090512.12 | transcript | ENST00000265029.8 | protein_coding | 2/6 | chr3 | TogoVar | ||||||
FEZ1_chr11_125437881_125501265 | 125446118 | C | T | splice_region_variant others(1): Show |
LOW | NA18747.hp2 NA18960.hp2 NA18982.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0191a0001c0001t0007g0199a0001c0001t0007g0203others(1): Show | 4 | 356 | 0.0112 | 0 | c.116 others(6): Show |
FEZ1 | ENSG00000149557.14 | transcript | ENST00000278919.8 | protein_coding | 9/9 | chr11 | TogoVar | ||||||
FEZ1_chr11_125437881_125501265 | 125454123 | C | T | splice_region_variant others(1): Show |
LOW | HG02895.hp2 HG02897.hp1 HG02970.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0105a0002c0002t0001g0108a0002c0002t0001g0115others(1): Show | 4 | 356 | 0.0112 | 0 | c.102 others(6): Show |
FEZ1 | ENSG00000149557.14 | transcript | ENST00000278919.8 | protein_coding | 7/9 | chr11 | TogoVar | ||||||
FEZ1_chr11_125437881_125501265 | 125496115 | C | T | splice_region_variant others(1): Show |
LOW | HG01167.hp1 HG02109.hp2 HG02258.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(1): Show | a0001c0001t0001g0008a0001c0001t0005g0007a0001c0001t0010g0005others(4): Show | 7 | 356 | 0.0197 | 0 | c.-46 others(5): Show |
FEZ1 | ENSG00000149557.14 | transcript | ENST00000278919.8 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
FEZF1_chr7_122296303_122309750 | 122302793 | G | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(258): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(58): Show | 261 | 436 | 0.5986 | 0 | c.106 others(6): Show |
FEZF1 | ENSG00000128610.12 | transcript | ENST00000442488.7 | protein_coding | 3/3 | chr7 | TogoVar | ||||||
FFAR2_chr19_35443257_35456767 | 35449710 | C | G | splice_region_variant others(1): Show |
LOW | HG01884.hp1 HG02622.hp1 HG03579.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0004a0001c0006t0017 | a0001c0001t0004g0027a0001c0001t0004g0034a0001c0006t0017g0039 | 3 | 454 | 0.0066 | 0 | c.-1- others(4): Show |
FFAR2 | ENSG00000126262.5 | transcript | ENST00000599180.3 | protein_coding | 1/1 | chr19 | TogoVar | ||||||
FFAR3_chr19_35353460_35365489 | 35359023 | CGCCGCCC others(6459): Show |
C | frameshift_variant others(4): Show |
HIGH | HG02602.hp2 | a0000 | a0000c0013 | a0000c0013t0015 | a0000c0013t0015g0001 | 1 | 415 | 0.0024 | -6466 | c.134 others(9): Show |
p.Arg others(4): Show |
FFAR3 | ENSG00000185897.7 | transcript | ENST00000327809.5 | protein_coding | 2/2 | 335/1800 | 134/1041 | 45/346 | chr19 | TogoVar | ||
FFAR3_chr19_35353460_35365489 | 35360248 | GGGTCTGA others(5234): Show |
G | splice_region_variant | LOW | HG00323.hp2 HG00597.hp1 HG00597.hp2 others(27): Show |
a0001a0005a0014 | a0001c0001a0001c0021a0005c0006others(1): Show | a0001c0001t0005a0001c0021t0005a0005c0006t0005others(1): Show | a0001c0001t0005g0001a0001c0021t0005g0001a0005c0006t0005g0001others(1): Show | 30 | 415 | 0.0723 | -5241 | c.*31 others(10): Show |
FFAR3 | ENSG00000185897.7 | transcript | ENST00000327809.5 | protein_coding | 2/2 | chr19 | TogoVar | ||||||
FGD1_chrX_54440454_54501234 | 54449660 | GGA | G | frameshift_variant others(1): Show |
HIGH | NA18939.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0143 | 1 | 264 | 0.0038 | -2 | c.214 others(11): Show |
p.Pro others(5): Show |
FGD1 | ENSG00000102302.8 | transcript | ENST00000375135.4 | protein_coding | 14/18 | 2948/4343 | 2145/2886 | 715/961 | chrX | TogoVar | ||
FGD2_chr6_37000655_37034069 | 37010969 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(151): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0005a0002c0003others(14): Show | a0001c0002t0007a0001c0002t0009a0001c0005t0006others(33): Show | a0001c0002t0007g0022a0001c0002t0007g0047a0001c0002t0007g0201others(116): Show | 154 | 430 | 0.3581 | 0 | c.301 others(5): Show |
FGD2 | ENSG00000146192.15 | transcript | ENST00000274963.13 | protein_coding | 2/15 | chr6 | TogoVar | ||||||
FGD2_chr6_37000655_37034069 | 37011058 | A | G | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(161): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0021others(42): Show | a0001c0001t0001g0058a0001c0001t0003g0058a0001c0001t0003g0116others(126): Show | 164 | 430 | 0.3814 | 0 | c.378 others(5): Show |
FGD2 | ENSG00000146192.15 | transcript | ENST00000274963.13 | protein_coding | 3/15 | chr6 | TogoVar | ||||||
FGD2_chr6_37000655_37034069 | 37014887 | C | G | splice_region_variant others(1): Show |
LOW | HG02257.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0251a0001c0001t0014g0288 | 2 | 430 | 0.0047 | 0 | c.883 others(5): Show |
FGD2 | ENSG00000146192.15 | transcript | ENST00000274963.13 | protein_coding | 7/15 | chr6 | TogoVar | ||||||
FGD2_chr6_37000655_37034069 | 37014888 | C | G | splice_region_variant others(1): Show |
LOW | HG00733.hp1 HG01243.hp1 HG02040.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(8): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0084others(18): Show | 25 | 430 | 0.0581 | 0 | c.883 others(5): Show |
FGD2 | ENSG00000146192.15 | transcript | ENST00000274963.13 | protein_coding | 7/15 | chr6 | TogoVar | ||||||
FGD3_chr9_92942523_93041233 | 92975230 | C | T | splice_region_variant others(1): Show |
LOW | HG03225.hp2 | a0001 | a0001c0030 | a0001c0030t0017 | a0001c0030t0017g0007 | 1 | 322 | 0.0031 | 0 | c.-21 others(6): Show |
FGD3 | ENSG00000127084.19 | transcript | ENST00000375482.8 | protein_coding | 1/17 | chr9 | TogoVar | ||||||
FGD3_chr9_92942523_93041233 | 93010384 | A | C | splice_region_variant others(1): Show |
LOW | NA18999.hp1 NA19088.hp2 |
a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0200a0001c0011t0002g0259 | 2 | 322 | 0.0062 | 0 | c.976 others(3): Show |
p.Arg others(6): Show |
FGD3 | ENSG00000127084.19 | transcript | ENST00000375482.8 | protein_coding | 7/18 | 1400/3246 | 976/2178 | 326/725 | chr9 | TogoVar | ||
FGD3_chr9_92942523_93041233 | 93015833 | G | C | splice_region_variant others(1): Show |
LOW | HG01081.hp1 HG01167.hp2 HG01169.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0002others(1): Show | a0001c0001t0001g0046a0001c0001t0007g0314a0001c0001t0007g0315others(18): Show | 21 | 322 | 0.0652 | 0 | c.127 others(6): Show |
FGD3 | ENSG00000127084.19 | transcript | ENST00000375482.8 | protein_coding | 10/17 | chr9 | TogoVar | ||||||
FGD3_chr9_92942523_93041233 | 93020309 | G | T | splice_region_variant others(1): Show |
LOW | HG01123.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0190 | 1 | 322 | 0.0031 | 0 | c.138 others(6): Show |
FGD3 | ENSG00000127084.19 | transcript | ENST00000375482.8 | protein_coding | 12/17 | chr9 | TogoVar | ||||||
FGD4_chr12_32394558_32651050 | 32602325 | G | A | splice_region_variant others(1): Show |
LOW | HG00738.hp1 HG01255.hp1 NA20300.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0022a0002c0002t0012 | a0001c0001t0022g0045a0002c0002t0012g0199a0002c0002t0012g0219others(1): Show | 4 | 232 | 0.0172 | 0 | c.140 others(6): Show |
FGD4 | ENSG00000139132.16 | transcript | ENST00000534526.7 | protein_coding | 7/16 | chr12 | TogoVar | ||||||
FGD4_chr12_32394558_32651050 | 32624968 | T | C | splice_region_variant others(1): Show |
LOW | HG02109.hp1 HG02257.hp2 HG02622.hp1 others(2): Show |
a0001a0002 | a0001c0003a0002c0005 | a0001c0003t0002a0001c0003t0041a0001c0003t0056others(1): Show | a0001c0003t0002g0143a0001c0003t0041g0044a0001c0003t0056g0077others(2): Show | 5 | 232 | 0.0216 | 0 | c.195 others(6): Show |
FGD4 | ENSG00000139132.16 | transcript | ENST00000534526.7 | protein_coding | 12/16 | chr12 | TogoVar | ||||||
FGD4_chr12_32394558_32651050 | 32625647 | T | C | splice_region_variant others(1): Show |
LOW | HG00738.hp2 HG01069.hp2 HG01070.hp2 others(33): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0010others(9): Show | a0001c0001t0005a0001c0003t0005a0001c0003t0015others(17): Show | a0001c0001t0005g0130a0001c0003t0005g0041a0001c0003t0005g0105others(33): Show | 36 | 232 | 0.1552 | 0 | c.204 others(6): Show |
FGD4 | ENSG00000139132.16 | transcript | ENST00000534526.7 | protein_coding | 13/16 | chr12 | TogoVar | ||||||
FGD4_chr12_32394558_32651050 | 32633544 | T | A | splice_region_variant others(1): Show |
LOW | NA19002.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0064 | 1 | 232 | 0.0043 | 0 | c.217 others(6): Show |
FGD4 | ENSG00000139132.16 | transcript | ENST00000534526.7 | protein_coding | 14/16 | chr12 | TogoVar | ||||||
FGD5_chr3_14813962_14939571 | 14924000 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(334): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0002a0001c0008others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0013others(334): Show | 337 | 342 | 0.9854 | 0 | c.393 others(6): Show |
FGD5 | ENSG00000154783.12 | transcript | ENST00000285046.10 | protein_coding | 16/19 | chr3 | TogoVar | ||||||
FGD6_chr12_95071749_95222467 | 95092693 | G | A | splice_region_variant others(1): Show |
LOW | HG02717.hp2 HG02809.hp2 HG02818.hp1 others(1): Show |
a0009a0011a0013 | a0009c0013a0011c0026a0013c0031 | a0009c0013t0024a0011c0026t0009a0013c0031t0009 | a0009c0013t0024g0085a0009c0013t0024g0086a0011c0026t0009g0280others(1): Show | 4 | 384 | 0.0104 | 0 | c.374 others(6): Show |
FGD6 | ENSG00000180263.14 | transcript | ENST00000343958.9 | protein_coding | 16/20 | chr12 | TogoVar | ||||||
FGD6_chr12_95071749_95222467 | 95106951 | C | G | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(232): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0003a0001c0006others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(71): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(232): Show | 235 | 384 | 0.6120 | 0 | c.341 others(6): Show |
FGD6 | ENSG00000180263.14 | transcript | ENST00000343958.9 | protein_coding | 13/20 | chr12 | TogoVar | ||||||
FGD6_chr12_95071749_95222467 | 95108503 | T | A | splice_region_variant others(1): Show |
LOW | NA18906.hp1 | a0001 | a0001c0024 | a0001c0024t0002 | a0001c0024t0002g0148 | 1 | 384 | 0.0026 | 0 | c.319 others(4): Show |
p.Gly others(7): Show |
FGD6 | ENSG00000180263.14 | transcript | ENST00000343958.9 | protein_coding | 10/21 | 3419/9291 | 3192/4293 | 1064/1430 | chr12 | TogoVar | ||
FGD6_chr12_95071749_95222467 | 95141380 | A | C | splice_region_variant others(1): Show |
LOW | HG01884.hp1 HG02280.hp2 HG02451.hp1 others(3): Show |
a0001 | a0001c0001a0001c0007a0001c0028 | a0001c0001t0070a0001c0007t0036a0001c0007t0077others(2): Show | a0001c0001t0070g0270a0001c0007t0036g0318a0001c0007t0036g0320others(3): Show | 6 | 384 | 0.0156 | 0 | c.283 others(6): Show |
FGD6 | ENSG00000180263.14 | transcript | ENST00000343958.9 | protein_coding | 6/20 | chr12 | TogoVar | ||||||
FGD6_chr12_95071749_95222467 | 95152845 | T | A | splice_region_variant others(1): Show |
LOW | HG01884.hp1 HG02970.hp1 |
a0001 | a0001c0001a0001c0028 | a0001c0001t0070a0001c0028t0017 | a0001c0001t0070g0270a0001c0028t0017g0269 | 2 | 384 | 0.0052 | 0 | c.265 others(6): Show |
FGD6 | ENSG00000180263.14 | transcript | ENST00000343958.9 | protein_coding | 4/20 | chr12 | TogoVar | ||||||
FGD6_chr12_95071749_95222467 | 95172747 | G | A | splice_region_variant others(1): Show |
LOW | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 384 | 0.0026 | 0 | c.244 others(6): Show |
FGD6 | ENSG00000180263.14 | transcript | ENST00000343958.9 | protein_coding | 2/20 | chr12 | TogoVar | ||||||
FGF10_chr5_44295247_44394420 | 44300246 | GT | G | splice_region_variant | LOW | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(132): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(32): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(125): Show | 135 | 350 | 0.3857 | -1 | c.*47 others(6): Show |
FGF10 | ENSG00000070193.5 | transcript | ENST00000264664.5 | protein_coding | 3/3 | chr5 | TogoVar | ||||||
FGF11_chr17_7434512_7449937 | 7439821 | C | T | splice_region_variant others(1): Show |
LOW | NA18990.hp2 NA19010.hp1 NA19011.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 4 | 350 | 0.0114 | 0 | c.193 others(5): Show |
FGF11 | ENSG00000161958.11 | transcript | ENST00000293829.9 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
FGF11_chr17_7434512_7449937 | 7441765 | T | TCCACCTG others(32): Show |
disruptive_inframe_insertion others(1): Show |
MODERATE | HG00408.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0026 | 1 | 350 | 0.0029 | 39 | c.305 others(48): Show |
p.Thr others(51): Show |
FGF11 | ENSG00000161958.11 | transcript | ENST00000293829.9 | protein_coding | 3/5 | 414/2578 | 305/678 | 102/225 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
FGF11_chr17_7434512_7449937 | 7442590 | T | C | splice_region_variant others(1): Show |
LOW | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024 | 1 | 350 | 0.0029 | 0 | c.409 others(5): Show |
FGF11 | ENSG00000161958.11 | transcript | ENST00000293829.9 | protein_coding | 3/4 | chr17 | TogoVar |